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rs149889416

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21577436
GeneALPL
is asnp
is mentioned by
dbSNPrs149889416
ebirs149889416
HLIrs149889416
Exacrs149889416
Varsomers149889416
Maprs149889416
PheGenIrs149889416
hapmaprs149889416
1000 genomesrs149889416
hgdprs149889416
ensemblrs149889416
gopubmedrs149889416
geneviewrs149889416
scholarrs149889416
googlers149889416
pharmgkbrs149889416
gwascentralrs149889416
openSNPrs149889416
23andMers149889416
23andMe allrs149889416
SNP Nexus

SNPshotrs149889416
SNPdbers149889416
MSV3drs149889416
GWAS Ctlgrs149889416
Max Magnitude4
rs149889416, also known as c.1363G>A or p.G455S, is a SNP in the ALPL gene on chromosome 1.

Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the adult form of hypophosphatasia.

This SNP is referred to as i6006953 by 23andMe.